Eric H. Legius - Genetic Mutations

Author Information

Eric H. Legius is a renowned researcher affiliated with the Department of Human Genetics at KU Leuven and University Hospital in Leuven, Belgium. His research primarily focuses on the genetic underpinnings of various neurocutaneous syndromes and related genetic disorders. His contributions to the field have been significant, as evidenced by his extensive publication record and high citation count.

Research Contributions

Eric H. Legius has made substantial contributions to the field of genetics, particularly in the study of neurocutaneous syndromes, RASopathies, and other genetic disorders. His recent work includes a comprehensive analysis of genome-wide data for cancer prediction during pregnancy, studies on the genetic variants associated with human developmental delays, and the challenges in treating genodermatoses. Notably, his research on the genetic basis of neurofibromatosis and schwannomatosis has provided critical insights into the diagnosis, treatment, and management of these conditions. His work has also expanded into animal models to understand the genetic mechanisms and potential therapeutic interventions for these disorders.

Aliases

Eric H. Legius is known by several aliases, including E Legius, E. Legius, and Eric Legius.

Publication and Citation Metrics

Metric	Value
Citation Count	16,379
h-Index	69
Paper Count	485

Publications:

Genetics of Neurocutaneous Syndromes

DOI: 10.1007/978-3-030-87893-1_1

Year: 2022

ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.

DOI: 10.1038/s41431-022-01086-x

Year: 2022

Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies

DOI: 10.1016/j.eclinm.2021.100856

Year: 2021

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

DOI: 10.1016/j.ajhg.2021.06.019

Year: 2021

Impaired instrumental learning in Spred1−/− mice, a model for a rare RASopathy

DOI: 10.1111/gbb.12727

Year: 2021

Challenges in Treating Genodermatoses: New Therapies at the Horizon

DOI: 10.3389/fphar.2021.746664

Year: 2021

60 Comprehensive genome-wide analysis of non-invasive test data allows accurate cancer prediction: a retrospective analysis of over 85.000 pregnancies

DOI: 10.1136/ijgc-2021-esgo.235

Year: 2021

Identifying challenges in neurofibromatosis: a modified Delphi procedure

DOI: 10.1038/s41431-021-00892-z

Year: 2021

MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders

DOI: 10.1186/s13229-021-00458-2

Year: 2021

Lessons learned from drug trials in neurofibromatosis: A systematic review.

DOI: 10.1016/j.ejmg.2021.104281

Year: 2021

What are the Applications of Populace Genomics?

Are CNVs Inherited?

How do Acridine Dyes Cause Mutations?

What Are Some Examples of Pharmacogenomic Applications?

How Do Synonymous Codons Affect Genetic Mutations?

What is CRISPR?

How does Pharmacogenomics Relate to Genetic Mutations?

What is the Prognosis for Individuals with the Delta F508 Mutation?

What types of genetic mutations are associated with PAH exposure?

What Types of Radiation Are Most Harmful?

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